Logo: to the web site of Uppsala University

uu.sePublikasjoner fra Uppsala universitet
Endre søk
RefereraExporteraLink to record
Permanent link

Direct link
Referera
Referensformat
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Annet format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annet språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf
An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis
Vise andre og tillknytning
2018 (engelsk)Inngår i: Molecular Psychiatry, ISSN 1359-4184, E-ISSN 1476-5578, Vol. 23, nr 7, s. 1674-1684Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

Lissencephaly comprises a spectrum of brain malformations due to impaired neuronal migration in the developing cerebral cortex. Classical lissencephaly is characterized by smooth cerebral surface and cortical thickening that result in seizures, severe neurological impairment and developmental delay. Mutations in the X-chromosomal gene DCX, encoding doublecortin, is the main cause of classical lissencephaly. Much of our knowledge about DCX-associated lissencephaly comes from post-mortem analyses of patient's brains, mainly since animal models with DCX mutations do not mimic the disease. In the absence of relevant animal models and patient brain specimens, we took advantage of induced pluripotent stem cell (iPSC) technology to model the disease. We established human iPSCs from two males with mutated DCX and classical lissencephaly including smooth brain and abnormal cortical morphology. The disease was recapitulated by differentiation of iPSC into neural cells followed by expression profiling and dissection of DCX-associated functions. Here we show that neural stem cells, with absent or reduced DCX protein expression, exhibit impaired migration, delayed differentiation and deficient neurite formation. Hence, the patient-derived iPSCs and neural stem cells provide a system to further unravel the functions of DCX in normal development and disease.Molecular Psychiatry advance online publication, 19 September 2017; doi:10.1038/mp.2017.175.

sted, utgiver, år, opplag, sider
Nature Publishing Group, 2018. Vol. 23, nr 7, s. 1674-1684
HSV kategori
Identifikatorer
URN: urn:nbn:se:uu:diva-343537DOI: 10.1038/mp.2017.175ISI: 000442358000016PubMedID: 28924182OAI: oai:DiVA.org:uu-343537DiVA, id: diva2:1186315
Forskningsfinansiär
Swedish Foundation for Strategic Research , IB13-0074Åke Wiberg FoundationTore Nilsons Stiftelse för medicinsk forskningFredrik och Ingrid Thurings StiftelseSwedish Research Council, 2015-02424_3Tilgjengelig fra: 2018-02-28 Laget: 2018-02-28 Sist oppdatert: 2018-11-05bibliografisk kontrollert

Open Access i DiVA

Fulltekst mangler i DiVA

Andre lenker

Forlagets fulltekstPubMed

Person

Schuster, Jens

Søk i DiVA

Av forfatter/redaktør
Schuster, JensDahl, Niklas
Av organisasjonen
I samme tidsskrift
Molecular Psychiatry

Søk utenfor DiVA

GoogleGoogle Scholar

doi
pubmed
urn-nbn

Altmetric

doi
pubmed
urn-nbn
Totalt: 24 treff
RefereraExporteraLink to record
Permanent link

Direct link
Referera
Referensformat
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Annet format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annet språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf